Abstract
Newfoundland and Labrador (NL), the most eastern province of Canada, is characterized
by a unique topography and pattern of settlement. The current population is descended
from a small founding population of indigenous Innu, Inuit and Mi’kmaq and an estimated
28,000 settlers. These settlers originated from Southwest England and Southeast Ireland
and came to invest and work in one of the world’s richest fisheries. They settled
in bays, coves and islands off the coast, in small settlements called out-ports. These
isolated communities developed unusual patterns of genetic disease including an unusual
prevalence of some extremely rare Hereditary Bleeding Disorders (HBD). This study
was designed to document the prevalence of these rare disorders, at a snapshot in
time, using our provincial HBD registry. These diagnoses were verified by reviewing
the original initial diagnostic coagulation results to confirm or refute each diagnosis.
When available, we also recorded the underlying mutation. Population based prevalence
rates were then compared with data published from the World Federation of Hemophilia
(WFH) Global Registry. The results are striking. Using the WFH data the per capita
prevalence in NL of Hemophilia A, Factors V, XI, and XIII Deficiency are higher than
that of mainland Canada minus Labrador by a factor of 2.89, 4.54, 5.44 and 9.22, respectively.
The increased prevalence of mild Hemophilia A is explained by a founder effect of
the Val 2016 Ala mutation. All the severe FXIII deficient patients are homozygotes
for c.691-1 G > A mutation. These results show that NL’s unique geography and population
distribution led to a genetic drift that increased the prevalence of some rare factor
deficiencies. This comparatively high prevalence provides a potential pool of patients
for genotype/phenotype research.
Keywords
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Article info
Publication history
Published online: October 30, 2018
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© 2018 Elsevier Ltd. All rights reserved.
